Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Theresa A, Grebe"'
Publikováno v:
AACE Clinical Case Reports, Vol 4, Iss 3, Pp 209-212 (2018)
ABSTRACT: Objective: 22q11.2 Deletion syndrome (22q11.2DS) is the most common chromosome deletion syndrome and increases the risk of autoimmune conditions, including thyroid disease, cytopenias, and juvenile rheumatoid arthritis. We report two unusua
Externí odkaz:
https://doaj.org/article/ed5a3c3c76ab444eaf269be84b030b24
Autor:
Theresa A. Grebe, Monique Riemann, Patricia Cornejo, Luís F. Gonçalves, Dawn Moncrief, Aparna Ramasubramanian
Publikováno v:
Clinical Imaging. 78:121-126
Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%, unilateral in 15%, and trilateral in 5% of the cases. Trilateral r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1edff58d8ede8ce1019cbd7f527f1c4
https://doi.org/10.1016/j.clinimag.2021.03.023
https://doi.org/10.1016/j.clinimag.2021.03.023
Autor:
David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0eefbb5baf3b41c35fc11bfd9840b3
https://doi.org/10.1016/j.ajhg.2021.06.019
https://doi.org/10.1016/j.ajhg.2021.06.019
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Publikováno v:
Journal of the American College of Cardiology. 81:1590
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79ee3897d3a235957a9ae2f7eb146cf7
https://doi.org/10.1016/s0735-1097(23)02034-x
https://doi.org/10.1016/s0735-1097(23)02034-x
Autor:
Stephen Pophal, Beate Peter, Winnie S. Liang, Nancy J. Scherer, Theresa A. Grebe, Colby Nielsen
Publikováno v:
American Journal of Medical Genetics Part A. 185:1532-1537
The 22q11.2 deletion syndrome (22q11.2 DS) is the most common deletion syndrome in humans. In most cases, it occurs de novo. A rare family of three with 22q11.2 deletion syndrome (22q11.2 DS) resulting from an unbalanced 18q;22q translocation is repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72f0fbf2f8fdcfcdebfeac1f29322fbb
https://doi.org/10.1002/ajmg.a.62121
https://doi.org/10.1002/ajmg.a.62121
Autor:
Margaret Chen, Theresa A. Grebe, Leslie Manace Brenman, George Khushf, Marc S. Williams, Dawn Bailey, Laurie H. Seaver
Publikováno v:
Genetics in Medicine. 22:1431-1436
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3584fbbd8737e307a55a2ad613be871d
https://doi.org/10.1038/s41436-020-0841-2
https://doi.org/10.1038/s41436-020-0841-2
Autor:
Julia Platt, Megan H. Hawley, Gabi Richard, K Thomson, Hana Zouk, James S. Ware, Wendy K. Chung, Hui Mei, Roddy Walsh, Birgit Funke, Ashley Ryan, Matthew S. Lebo, Melissa A. Kelly, Naif A.M. Almontashiri, John Garcia, Daniela Macaya, Leslie G. Biesecker, Matteo Vatta, Matthew T. Wheeler, Heather Mason-Suares, Theresa A. Grebe, Natalie Berger
Publikováno v:
Hum Mutat
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f4896a040d5d587acbdb90a663ae03
https://doi.org/10.1002/humu.24061
https://doi.org/10.1002/humu.24061
Autor:
Gajja S. Salomons, Urania Kotzaeridou, Travis Moore, Chiara Aiello, Frances Elmslie, Isabelle Thiffault, Francesco Nicita, Saskia Biskup, Paola Goffrini, Karen Stals, Ralf A. Husain, Sonia Figuccia, Amy Pizzino, Rosalba Carrozzo, Cas Simons, Enrico Bertini, Alessandra Torraco, Guy Helman, Ulrich Brandl, Geneviève Bernard, Desirée E.C. Smith, Ryan J. Taft, Rajat Gupta, Tobias B. Haack, Alexa Derksen, Adeline Vanderver, Theresa A. Grebe, Michela Catteruccia, Raphael Schiffmann, Marisa I. Mendes, Marjo S. van der Knaap, Darja Gauck, Andreas Hahn, Lama Darbelli, Omar Sherbini, Ines Brösse, Kinga Hadzsiev
Publikováno v:
Genetics in medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Purpose: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca95affd452f17a6c485d3de16d5b85b
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-disease(f8099511-a150-409f-89b2-4af617ac64f8).html
Autor:
Robert G. Best, George Khushf, Sara Schonfeld Rabin-Havt, Ellen Wright Clayton, Theresa A. Grebe, Jill Hagenkord, Scott Topper, Jaime Fivecoat, Margaret Chen, Wayne W. Grody
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f184146bd73e2974b11c8363e52a0db
https://pubmed.ncbi.nlm.nih.gov/35253644
https://pubmed.ncbi.nlm.nih.gov/35253644